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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 3, 2023. (Total: 223614Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Retinitis Pigmentosa and GUCY2D[original query]
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Molecular vision 2009 15 1781-7.
Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Ophthalmology 2010 1 117 (6): 1190-8.
Walia Saloni, Fishman Gerald A, Jacobson Samuel G, Aleman Tomas S, Koenekoop Robert K, Traboulsi Elias I, Weleber Richard G, Pennesi Mark E, Heon Elise, Drack Arlene, Lam Byron L, Allikmets Rando, Stone Edwin
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet journal of rare diseases 2015 10 (1): 85.
Boulanger-Scemama Elise, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Souied Eric, Mohand-Saïd Saddek, Sahel José-Alain, Zeitz Christina, Audo Isabel
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
Journal of ophthalmology 2015 2015 693468.
Hosono Katsuhiro, Harada Yuko, Kurata Kentaro, Hikoya Akiko, Sato Miho, Minoshima Shinsei, Hotta Yoshihi
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
The British journal of ophthalmology 2019 10 104 (7): 932-937.
Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya
Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
PloS one 2020 9 15 (9): e0239748.
Rashid Muhammad, Qasim Muhammad, Ishaq Rafaqat, Bukhari Shazia Anwer, Sajid Zureesha, Ashfaq Usman Ali, Haque Asma, Ahmed Zubair
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Orphanet journal of rare diseases 2020 2 15 (1): 32.
Cho Ahra, Lima de Carvalho Jose Ronaldo, Tanaka Akemi J, Jauregui Ruben, Levi Sarah R, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen
Comprehensive genotyping and phenotyping analysis of GUCY2D-associated rod- and cone-dominated dystrophies.
American journal of ophthalmology 2023 6 .
Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Marta Del Pozo-Valero, Irene Perea-Romero, Saoud T Swafiri, Olga Zurita, Cristina Villaverde, Miguel A López, Raquel Romero, Ionut Florin Iancu, Gonzalo Núñez-Moreno, Belén Jiménez-Rolando, María Pilar Martin-Gutierrez, Ester Carreño, Pablo Minguez, Blanca García-Sandoval, Carmen Ayuso, Marta Cort
Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 11 .
Richul Oh, Se Joon Woo, Kwangsic J
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